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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 17-32208837-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32208837&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 32208837,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000545287.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1739+528G>A",
          "hgvs_p": null,
          "transcript": "NM_001033566.3",
          "protein_id": "NP_001028738.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3165,
          "mane_select": "ENST00000545287.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1739+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000545287.7",
          "protein_id": "ENSP00000439737.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3165,
          "mane_select": "NM_001033566.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1740-513G>A",
          "hgvs_p": null,
          "transcript": "ENST00000358365.7",
          "protein_id": "ENSP00000351132.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3297,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1739+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000333942.10",
          "protein_id": "ENSP00000334724.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3133,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1676+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000354266.7",
          "protein_id": "ENSP00000346215.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2919,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "n.*1707+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000578205.5",
          "protein_id": "ENSP00000462612.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "n.1739+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000581031.5",
          "protein_id": "ENSP00000464094.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3013,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.*524G>A",
          "hgvs_p": null,
          "transcript": "ENST00000581094.5",
          "protein_id": "ENSP00000462669.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1740-513G>A",
          "hgvs_p": null,
          "transcript": "NM_001033568.3",
          "protein_id": "NP_001028740.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 691,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3261,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1740-513G>A",
          "hgvs_p": null,
          "transcript": "NM_001288754.2",
          "protein_id": "NP_001275683.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1740-513G>A",
          "hgvs_p": null,
          "transcript": "ENST00000394692.6",
          "protein_id": "ENSP00000378184.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
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          "cdna_length": 2960,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1739+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000581148.2",
          "protein_id": "ENSP00000467272.2",
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          "aa_start": null,
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          "aa_length": 633,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1739+528G>A",
          "hgvs_p": null,
          "transcript": "NM_018307.5",
          "protein_id": "NP_060777.3",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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        },
        {
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          "intron_rank": 18,
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          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1676+528G>A",
          "hgvs_p": null,
          "transcript": "NM_001288755.2",
          "protein_id": "NP_001275684.1",
          "transcript_support_level": null,
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          "aa_length": 597,
          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          ],
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          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1359-513G>A",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.1358+528G>A",
          "hgvs_p": null,
          "transcript": "NM_001033567.3",
          "protein_id": "NP_001028739.2",
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        },
        {
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.162-513G>A",
          "hgvs_p": null,
          "transcript": "ENST00000652713.1",
          "protein_id": "ENSP00000498380.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 4,
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          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.488+528G>A",
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          "transcript": "ENST00000582602.5",
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        {
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          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.359+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000580392.5",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "c.8+528G>A",
          "hgvs_p": null,
          "transcript": "ENST00000584852.1",
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          "cds_length": 174,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "RHOT1",
          "gene_hgnc_id": 21168,
          "hgvs_c": "n.*1708-513G>A",
          "hgvs_p": null,
          "transcript": "ENST00000583994.5",
          "protein_id": "ENSP00000462698.2",
          "transcript_support_level": 2,
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